Linked Data
ClinVar Variation Id:
3164684
ClinVar RCV Id:
RCV004461554
dbSNP Id:
rs1822039309
gnomAD v3:
8-144414019-C-T
gnomAD v4:
8-144414019-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144414019C>T , CM000670.2:g.144414019C>T | GRCh38 |
| NC_000008.10:g.145639403C>T , CM000670.1:g.145639403C>T | GRCh37 |
| NC_000008.9:g.145610211C>T | NCBI36 |
| NG_012234.2:g.7872G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301305.8:c.1226G>A MANE Select | ENSP00000301305.4:p.Gly409Glu | |
| ENST00000276833.9:c.1151G>A | ENSP00000276833.5:p.Gly384Glu | |
| ENST00000301305.7:c.1226G>A | ENSP00000301305.3:p.Gly409Glu | |
| ENST00000531789.1:n.63G>A | ||
| NM_017767.2:c.1151G>A | NP_060237.2:p.Gly384Glu | |
| NM_130849.3:c.1226G>A | NP_570901.2:p.Gly409Glu | |
| XM_006716599.1:c.1226G>A | XP_006716662.1:p.Gly409Glu | |
| XM_011517153.1:c.944G>A | XP_011515455.1:p.Gly315Glu | |
| XM_024447188.1:c.944G>A | XP_024302956.1:p.Gly315Glu | |
| XM_024447189.1:c.944G>A | XP_024302957.1:p.Gly315Glu | |
| NM_001374839.1:c.944G>A | NP_001361768.1:p.Gly315Glu | |
| NM_017767.3:c.1151G>A | NP_060237.3:p.Gly384Glu | |
| NM_130849.4:c.1226G>A MANE Select | NP_570901.3:p.Gly409Glu |